Genetics Detective Work Key to Difficult NICU Conversations
Joseph R.Hageman, MD, FAAP, NeoReviews Editorial Board
“First, figure out what syndrome this baby has, and THEN call the geneticist!”
I have always tried to teach medical students and residents this approach. When you
are in the delivery room, newborn nursery, or neonatal intensive care unit (NICU),
and you are evaluating a dysmorphic newborn, commit to doing your best to identify
the syndrome – before the genetics team weighs in.
When you see an anomaly in a newborn, be suspicious and look for other anomalies.
In the late 1970s and early 1980s, before there was fetal ultrasonography, fetal magnetic
resonance imaging, chorionic villus sampling, or amniocentesis, I had the opportunity
on multiple occasions to begin the evaluation of a dysmorphic newborn in the delivery
room. As a pediatrician/neonatologist, I think you are also an amateur geneticist/dysmorphologist.
Honestly, when Drs. Kshama Shah and Alison DeRemigis expressed interest in writing
a paper about X chromosomal disorders (3), I thought I could help as an amateur dysmorphologist!
I reviewed their early drafts and thought they did an excellent job of educating our
clinical neonatologist audience. We then thought that Dr. Darrel Waggoner, our geneticist
at University of Chicago, should review the paper to provide his expertise. He suggested
that we should provide more specifics about the X chromosome – how it is inactivated
and the effect of these changes on the phenotypes of the X chromosomal disorders.
And I have to admit, it has taken me rereading our paper with the help of Dr. Sudhir
Sriram, who is a neonatologist who knows much more about genetics and dysmorphology,
to refine this paper and make it more understandable and clinically relevant to our
As we have stated in the paper’s introduction, the neonatologist often is the first clinician to explain the specifics of a syndrome
to parents of a dysmorphic infant. Thus, it is important for neonatologists to be
knowledgeable about genetic syndromes.
There are also clinically useful websites including http://www.omim.org/. Frequently, it takes me a number of times returning to the bedside with my resources
to try to identify the infant’s syndrome.
And please remember to review the prenatal course (Did the baby’s mother have an amniocentesis?
Did the quadruple screen reveal any abnormality? What about the fetal ultrasound?
What is the ethnicity? What about the prenatal lab results?) to make certain that
you have all of the pieces of the puzzle. It’s important to perform a thorough physical
examination, which may require repetition after you have reviewed your available resources.
After you have gathered all of your information and reviewed it with your colleagues,
you can call your geneticist and proudly reveal your diagnosis.
Then, when the geneticist comes to examine your patient and says, “Joe, did you notice
this clinodactyly, single-flexion crease, short stubby fingers, etc.,” that you had
not noticed, you can take a deep breath, learn how much more the specialist has observed
… and remind yourself why you still need to call your genetics consultant in these